ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4611+9C>G (rs760704159)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443681 SCV000512162 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001089223 SCV000558425 likely benign Ataxia-telangiectasia syndrome 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590322 SCV000694286 uncertain significance not provided 2015-10-22 criteria provided, single submitter clinical testing Variant summary: ATM c.4611+9C>G affects a non-conserved nucleotide, Mutation Taster predicts the change is a polymorphism, and 4/5 Alamut algorithms predict no significant change to splicing. This variant was found in 2/121332 control chromosomes at a frequency of 0.0000165, which does not significantly exceed maximal expected frequency of a pathogenic ATM allele (0.0039528). The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Color Health, Inc RCV000773191 SCV000906763 likely benign Hereditary cancer-predisposing syndrome 2016-08-15 criteria provided, single submitter clinical testing

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